Incidental Mutation 'R4956:Gadl1'
ID 381587
Institutional Source Beutler Lab
Gene Symbol Gadl1
Ensembl Gene ENSMUSG00000056880
Gene Name glutamate decarboxylase-like 1
Synonyms 1110027M19Rik
MMRRC Submission 042553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4956 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 115713947-115905243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115869987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 451 (I451N)
Ref Sequence ENSEMBL: ENSMUSP00000112433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069651] [ENSMUST00000119291] [ENSMUST00000121770]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069651
SMART Domains Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 58 426 1.1e-113 PFAM
Pfam:Beta_elim_lyase 137 467 1e-7 PFAM
Pfam:Aminotran_5 167 333 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117563
Predicted Effect probably benign
Transcript: ENSMUST00000119291
AA Change: I451N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: I451N

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 58 426 3.2e-112 PFAM
Pfam:Beta_elim_lyase 137 446 1.6e-6 PFAM
Pfam:Aminotran_5 184 330 3.3e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121770
SMART Domains Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 58 426 2.8e-112 PFAM
Pfam:Beta_elim_lyase 137 461 6.2e-8 PFAM
Pfam:Aminotran_5 184 330 4.1e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,672,816 (GRCm39) K866E probably damaging Het
Afap1l2 T C 19: 56,931,879 (GRCm39) M49V probably benign Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Atp2a2 A G 5: 122,599,643 (GRCm39) F583L probably benign Het
Atxn7l3b A G 10: 112,764,501 (GRCm39) C43R probably damaging Het
Axin2 T C 11: 108,833,904 (GRCm39) V617A probably damaging Het
Bltp3a T A 17: 28,108,958 (GRCm39) probably null Het
Brd1 A T 15: 88,614,316 (GRCm39) F193Y probably damaging Het
Cdc27 T C 11: 104,420,221 (GRCm39) S141G probably damaging Het
Chst9 A T 18: 15,851,045 (GRCm39) F7Y probably damaging Het
Cpn2 T A 16: 30,079,233 (GRCm39) Q156L possibly damaging Het
Dcaf6 A T 1: 165,216,354 (GRCm39) D416E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Eif2s3y A G Y: 1,023,407 (GRCm39) T430A possibly damaging Het
Enah G A 1: 181,745,854 (GRCm39) T401I probably damaging Het
Esp38 T G 17: 40,266,053 (GRCm39) I54R probably damaging Het
Ffar4 C T 19: 38,086,028 (GRCm39) R152W probably benign Het
Flvcr1 A G 1: 190,758,383 (GRCm39) probably benign Het
Fzd9 G A 5: 135,278,796 (GRCm39) A363V probably damaging Het
Hmg20a A G 9: 56,388,948 (GRCm39) T172A probably damaging Het
Ints1 G A 5: 139,742,885 (GRCm39) T1695M probably damaging Het
Ipo13 G A 4: 117,758,768 (GRCm39) A699V probably benign Het
Ipo9 A G 1: 135,331,960 (GRCm39) probably null Het
Klra17 A G 6: 129,850,279 (GRCm39) L57P probably damaging Het
Map3k8 A C 18: 4,339,530 (GRCm39) D280E probably benign Het
Mycbp2 A G 14: 103,524,675 (GRCm39) F662L probably damaging Het
Ncor1 T A 11: 62,231,431 (GRCm39) H792L probably damaging Het
Nlrx1 T A 9: 44,173,909 (GRCm39) K431* probably null Het
Nos1 A G 5: 118,085,575 (GRCm39) N1301S probably benign Het
Obp2b A G 2: 25,627,087 (GRCm39) T7A probably damaging Het
Odc1 T C 12: 17,597,958 (GRCm39) I95T probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4c127 G A 2: 89,833,187 (GRCm39) V146M probably benign Het
Or5b97 C T 19: 12,878,963 (GRCm39) M60I probably damaging Het
Or6ae1 A G 7: 139,741,993 (GRCm39) I290T possibly damaging Het
Or6c1 A T 10: 129,517,968 (GRCm39) F213L probably benign Het
Pcif1 A T 2: 164,731,610 (GRCm39) Q521L probably damaging Het
Plekhg2 A C 7: 28,067,780 (GRCm39) L223R probably damaging Het
Plod3 A G 5: 137,018,772 (GRCm39) N270D probably damaging Het
Ppp1r37 A T 7: 19,266,636 (GRCm39) L417* probably null Het
Psmd6 C T 14: 14,116,166 (GRCm38) V141I probably benign Het
Rcn1 A T 2: 105,225,121 (GRCm39) Y111* probably null Het
Rell2 G A 18: 38,090,758 (GRCm39) R145H probably damaging Het
Scaper T C 9: 55,745,426 (GRCm39) K614R probably damaging Het
Scart2 A G 7: 139,878,275 (GRCm39) I1001V probably benign Het
Shbg C T 11: 69,508,045 (GRCm39) E107K probably damaging Het
Slc30a3 G A 5: 31,244,247 (GRCm39) P345L possibly damaging Het
Tchp A C 5: 114,857,681 (GRCm39) E391D probably damaging Het
Timeless A G 10: 128,077,520 (GRCm39) D200G probably damaging Het
Tspear A G 10: 77,700,601 (GRCm39) T144A possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vgll3 T C 16: 65,624,820 (GRCm39) V56A possibly damaging Het
Vmn2r71 C T 7: 85,268,436 (GRCm39) T213I probably benign Het
Wtap T C 17: 13,186,423 (GRCm39) T375A probably benign Het
Yipf2 T G 9: 21,503,204 (GRCm39) T88P probably damaging Het
Zfp382 T A 7: 29,830,979 (GRCm39) D89E probably benign Het
Zfp955b C T 17: 33,524,209 (GRCm39) probably benign Het
Zpr1 C T 9: 46,185,961 (GRCm39) T144I probably damaging Het
Other mutations in Gadl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Gadl1 APN 9 115,783,907 (GRCm39) critical splice donor site probably null
IGL01343:Gadl1 APN 9 115,903,180 (GRCm39) makesense probably null
IGL01693:Gadl1 APN 9 115,778,653 (GRCm39) missense probably damaging 1.00
IGL02106:Gadl1 APN 9 115,766,225 (GRCm39) utr 5 prime probably benign
IGL02740:Gadl1 APN 9 115,835,629 (GRCm39) nonsense probably null
IGL03063:Gadl1 APN 9 115,795,335 (GRCm39) missense probably damaging 1.00
IGL03104:Gadl1 APN 9 115,903,108 (GRCm39) missense possibly damaging 0.93
IGL03127:Gadl1 APN 9 115,777,732 (GRCm39) missense probably damaging 1.00
R0133:Gadl1 UTSW 9 115,770,411 (GRCm39) missense probably benign 0.00
R0285:Gadl1 UTSW 9 115,859,806 (GRCm39) splice site probably benign
R0737:Gadl1 UTSW 9 115,903,055 (GRCm39) missense probably damaging 0.99
R0771:Gadl1 UTSW 9 115,773,300 (GRCm39) missense probably damaging 1.00
R1522:Gadl1 UTSW 9 115,773,297 (GRCm39) missense probably damaging 1.00
R1716:Gadl1 UTSW 9 115,835,576 (GRCm39) nonsense probably null
R2061:Gadl1 UTSW 9 115,770,448 (GRCm39) missense probably damaging 1.00
R2163:Gadl1 UTSW 9 115,778,626 (GRCm39) missense possibly damaging 0.93
R3854:Gadl1 UTSW 9 115,835,732 (GRCm39) nonsense probably null
R3964:Gadl1 UTSW 9 115,794,676 (GRCm39) missense probably damaging 0.98
R4654:Gadl1 UTSW 9 115,770,408 (GRCm39) missense probably damaging 1.00
R4724:Gadl1 UTSW 9 115,783,685 (GRCm39) missense possibly damaging 0.81
R4765:Gadl1 UTSW 9 115,795,381 (GRCm39) missense probably null 0.00
R5179:Gadl1 UTSW 9 115,789,448 (GRCm39) nonsense probably null
R5593:Gadl1 UTSW 9 115,835,718 (GRCm39) missense probably damaging 1.00
R5620:Gadl1 UTSW 9 115,766,230 (GRCm39) start codon destroyed probably benign 0.09
R6048:Gadl1 UTSW 9 115,835,769 (GRCm39) splice site probably null
R6458:Gadl1 UTSW 9 115,870,070 (GRCm39) makesense probably null
R7497:Gadl1 UTSW 9 115,903,155 (GRCm39) missense probably benign 0.00
R7889:Gadl1 UTSW 9 115,783,883 (GRCm39) missense possibly damaging 0.56
R8843:Gadl1 UTSW 9 115,835,569 (GRCm39) missense probably benign 0.00
R8858:Gadl1 UTSW 9 115,835,669 (GRCm39) missense probably damaging 1.00
R9015:Gadl1 UTSW 9 115,794,705 (GRCm39) missense probably benign 0.03
R9459:Gadl1 UTSW 9 115,794,679 (GRCm39) missense probably damaging 1.00
R9758:Gadl1 UTSW 9 115,789,519 (GRCm39) missense probably benign 0.09
Z1088:Gadl1 UTSW 9 115,766,338 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGGCTTTCCTAACCTCTGG -3'
(R):5'- ACTACCACATGACCCTGCTTG -3'

Sequencing Primer
(F):5'- AACCTCTGGTTTCTGATTCCTCTTGG -3'
(R):5'- GGTGAAGGTTCTCCCATGATTC -3'
Posted On 2016-04-27